Varaico: Literature-Extracted Genetic Variants

ESPN

244 papers

RefSeq Summary

This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus...

Pfam Domains

Ank_2aa 64–135UCSCAnkyrin repeats (3 copies)

Ank_2aa 108–203UCSCAnkyrin repeats (3 copies)

Ank_2aa 195–269UCSCAnkyrin repeats (3 copies)

Ank_2aa 260–334UCSCAnkyrin repeats (3 copies)

WH2aa 648–675UCSCWH2 motif

Gene Aliases

HGNC Name

espin

HGNC Previous Symbol

DFNB36

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_031475.3

p.P707Q

c.2120C>A

Surrounding Variants

1 paper

NM_031475.3

p.P707L

c.2120C>T

1 paper

NM_031475.3

p.S704N

c.2111G>A

1 paper

NM_031475.3

p.P714insFs

c.2140dupC

1 paper

NM_031475.3

p.N717S

c.2150A>G

1 paper

NM_031475.3

p.G718E

c.2153G>A

3 papers

NM_031475.3

p.S719R

c.2155A>C

3 papers

NM_031475.3

p.S719R

c.2157C>A

3 papers

NM_031475.3

p.S719R

c.2157C>G

1 paper

NM_031475.3

p.V721_P724del4

c.2161_2171del12

1 paper

NM_031475.3

p.L692delFs

c.2076delG

1 paper

NM_031475.3

p.V723M

c.2167G>A

1 paper

NM_031475.3

p.P691L

c.2072C>T